Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 5

Results: 14

Allele-Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease.

Published in:

Human Mutation, 2013, v. 34, n. 5, p. 754, doi. 10.1002/humu.22302

By:

Matera, Ivana;
Musso, Marco;
Griseri, Paola;
Rusmini, Marta;
Di Duca, Marco;
So, Man‐ting;
Mavilio, Domenico;
Miao, Xiaoping;
Tam, Paul HK;
Ravazzolo, Roberto;
Ceccherini, Isabella;
Garcia‐Barcelo, Merce

Publication type:

Article

Long-Standing Balancing Selection in the THBS 4 Gene: Influence on Sex-Specific Brain Expression and Gray Matter Volumes in Alzheimer Disease.

Published in:

Human Mutation, 2013, v. 34, n. 5, p. 743, doi. 10.1002/humu.22301

By:

Cagliani, Rachele;
Guerini, Franca R.;
Rubio‐Acero, Raquel;
Baglio, Francesca;
Forni, Diego;
Agliardi, Cristina;
Griffanti, Ludovica;
Fumagalli, Matteo;
Pozzoli, Uberto;
Riva, Stefania;
Calabrese, Elena;
Sikora, Martin;
Casals, Ferran;
Comi, Giacomo P.;
Bresolin, Nereo;
Cáceres, Mario;
Clerici, Mario;
Sironi, Manuela

Publication type:

Article

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease.

Published in:

Human Mutation, 2013, v. 34, n. 5, p. 714, doi. 10.1002/humu.22294

By:

Schmidts, Miriam;
Frank, Valeska;
Eisenberger, Tobias;
al Turki, Saeed;
Bizet, Albane A.;
Antony, Dinu;
Rix, Suzanne;
Decker, Christian;
Bachmann, Nadine;
Bald, Martin;
Vinke, Tobias;
Toenshoff, Burkhard;
Di Donato, Natalia;
Neuhann, Theresa;
Hartley, Jane L.;
Maher, Eamonn R.;
Bogdanović, Radovan;
Peco‐Antić, Amira;
Mache, Christoph;
Hurles, Matthew E.

Publication type:

Article

Novel strategies for classifying splice-site variants of unknown clinical significance in CFTR.

Published in:

Human Mutation, 2013, v. 34, n. 5, p. v, doi. 10.1002/humu.22184

By:

Costa, Catherine

Publication type:

Article

Preimplantation Genetic Diagnosis in Genomic Regions with Duplications and Pseudogenes: Long-Range PCR in the Single-Cell Assay.

Published in:

Human Mutation, 2013, v. 34, n. 5, p. 792, doi. 10.1002/humu.22298

By:

Zeevi, David A.;
Renbaum, Paul;
Ron‐El, Raphael;
Eldar‐Geva, Talia;
Raziel, Arieh;
Brooks, Baruch;
Strassburger, Dvorah;
Margalioth, Ehud J.;
Levy‐Lahad, Ephrat;
Altarescu, Gheona

Publication type:

Article

Systematic Detection of Pathogenic Alu Element Insertions in NGS-Based Diagnostic Screens: The BRCA1/ BRCA2 Example.

Published in:

Human Mutation, 2013, v. 34, n. 5, p. 785, doi. 10.1002/humu.22297

By:

Brakeleer, Sylvia;
Grève, Jacques;
Lissens, Willy;
Teugels, Erik

Publication type:

Article

Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia.

Published in:

Human Mutation, 2013, v. 34, n. 5, p. 669, doi. 10.1002/humu.22279

By:

Colclough, Kevin;
Bellanne‐Chantelot, Christine;
Saint‐Martin, Cecile;
Flanagan, Sarah E.;
Ellard, Sian

Publication type:

Article

Autosomal Recessive Spinocerebellar Ataxia 7 ( SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease ( CLN2 Disease).

Published in:

Human Mutation, 2013, v. 34, n. 5, p. 706, doi. 10.1002/humu.22292

By:

Sun, Yu;
Almomani, Rowida;
Breedveld, Guido J.;
Santen, Gijs W.E.;
Aten, Emmelien;
Lefeber, Dirk J.;
Hoff, Jorrit I.;
Brusse, Esther;
Verheijen, Frans W.;
Verdijk, Rob M.;
Kriek, Marjolein;
Oostra, Ben;
Breuning, Martijn H.;
Losekoot, Monique;
Dunnen, Johan T.;
Warrenburg, Bart P.;
Maat‐Kievit, Anneke J.A.

Publication type:

Article

Mutation Spectrum in RAB 3 GAP 1, RAB 3 GAP 2, and RAB 18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome.

Published in:

Human Mutation, 2013, v. 34, n. 5, p. 686, doi. 10.1002/humu.22296

By:

Handley, Mark T.;
Morris‐Rosendahl, Deborah J.;
Brown, Stephen;
Macdonald, Fiona;
Hardy, Carol;
Bem, Danai;
Carpanini, Sarah M.;
Borck, Guntram;
Martorell, Loreto;
Izzi, Claudia;
Faravelli, Francesca;
Accorsi, Patrizia;
Pinelli, Lorenzo;
Basel‐Vanagaite, Lina;
Peretz, Gabriela;
Abdel‐Salam, Ghada M.H.;
Zaki, Maha S.;
Jansen, Anna;
Mowat, David;
Glass, Ian

Publication type:

Article

Mutated Desmoglein-2 Proteins are Incorporated into Desmosomes and Exhibit Dominant-Negative Effects in Arrhythmogenic Right Ventricular Cardiomyopathy.

Published in:

Human Mutation, 2013, v. 34, n. 5, p. 697, doi. 10.1002/humu.22289

By:

Rasmussen, Torsten B.;
Palmfeldt, Johan;
Nissen, Peter H.;
Magnoni, Raffaela;
Dalager, Søren;
Jensen, Uffe B.;
Kim, Won Y.;
Heickendorff, Lene;
Mølgaard, Henning;
Jensen, Henrik K.;
Baandrup, Ulrik T.;
Bross, Peter;
Mogensen, Jens

Publication type:

Article

A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene.

Published in:

Human Mutation, 2013, v. 34, n. 5, p. 774, doi. 10.1002/humu.22291

By:

Raynal, Caroline;
Baux, David;
Theze, Corinne;
Bareil, Corinne;
Taulan, Magali;
Roux, Anne‐Françoise;
Claustres, Mireille;
Tuffery‐Giraud, Sylvie;
des Georges, Marie

Publication type:

Article

Novel CYP2 B6 Enzyme Variants in a Rwandese Population: Functional Characterization and Assessment of In Silico Prediction Tools.

Published in:

Human Mutation, 2013, v. 34, n. 5, p. 725, doi. 10.1002/humu.22295

By:

Radloff, Robert;
Gras, Alain;
Zanger, Ulrich M.;
Masquelier, Cécile;
Arumugam, Karthik;
Karasi, Jean‐Claude;
Arendt, Vic;
Seguin‐Devaux, Carole;
Klein, Kathrin

Publication type:

Article

An MLPA-Based Strategy for Discrete CNV Genotyping: CNV-mi RNAs as an Example.

Published in:

Human Mutation, 2013, v. 34, n. 5, p. 763, doi. 10.1002/humu.22288

By:

Marcinkowska‐Swojak, Malgorzata;
Uszczynska, Barbara;
Figlerowicz, Marek;
Kozlowski, Piotr

Publication type:

Article

Identification of Functional cis-regulatory Polymorphisms in the Human Genome.

Published in:

Human Mutation, 2013, v. 34, n. 5, p. 735, doi. 10.1002/humu.22299

By:

Molineris, Ivan;
Schiavone, Davide;
Rosa, Fabio;
Matullo, Giuseppe;
Poli, Valeria;
Provero, Paolo

Publication type:

Article